ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825186497
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1937461
ClinVar RCV Id:
RCV002642817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Met288Arg
CA10385945
NM_000531.6:c.863T>G